A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14254639



Internal ID22298700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:60347209..60388584hg38UCSC Ensembl
Outerchr12:60740990..60782365hg19UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3841376
hg1941376
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3217192
Supporting Variants
SamplesNA19240
Known Genes
MethodOptical mapping
AnalysisBioNano Genomics proprietary analysis
PlatformBioNano Genomics
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14254639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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